Rare Diseases Symptoms Automatic Extraction
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5' C-rich telomeric overhangs are an outcome of rapid telomere truncation events.
[werner syndrome]
A
subset
of
human
tumors
ensures
indefinite
telomere
length
maintenance
by
activating
a
telomerase-independent
mechanism
known
as
Alternative
Lengthening
of
Telomeres
(
ALT
)
.
Most
tumor
cells
of
ALT
origin
share
a
constellation
of
unique
characteristics
,
which
include
large
stores
of
extra
-chromosomal
telomeric
material
,
chronic
telomere
dysfunction
and
a
peculiar
enrichment
in
chromosome
ends
with
5
'
C-
rich
overhangs
.
Here
we
demonstrate
that
acute
telomere
de
-protection
and
the
subsequent
DNA
damage
signal
are
not
sufficient
to
facilitate
formation
of
5
'
C-
overhangs
at
the
chromosome
end
.
Rather
chromosome
ends
bearing
5
'
C-
overhangs
are
a
by
-product
of
rapid
cleavage
events
,
processing
of
which
occurs
independently
of
the
DNA
damage
response
and
is
partly
mediated
through
the
XRCC
3
endonuclease
.
Diseases
Validation
Diseases presenting
"tumor cells"
symptom
alpha-thalassemia
carcinoma of the gallbladder
cholangiocarcinoma
cushing syndrome
dedifferentiated liposarcoma
dentin dysplasia
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
severe combined immunodeficiency
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
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